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rs121908946

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908946(A;A)
Make rs121908946(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position32807860
GeneDNMT3B
is asnp
is mentioned by
dbSNPrs121908946
dbSNP (classic)rs121908946
ClinGenrs121908946
ebirs121908946
HLIrs121908946
Exacrs121908946
Gnomadrs121908946
Varsomers121908946
LitVarrs121908946
Maprs121908946
PheGenIrs121908946
Biobankrs121908946
1000 genomesrs121908946
hgdprs121908946
ensemblrs121908946
geneviewrs121908946
scholarrs121908946
googlers121908946
pharmgkbrs121908946
gwascentralrs121908946
openSNPrs121908946
23andMers121908946
SNPshotrs121908946
SNPdbers121908946
MSV3drs121908946
GWAS Ctlgrs121908946
Max Magnitude0
OMIM602900
Desc
Variant0012
Relatedalso
ClinVar
Risk rs121908946(A;A)
Alt rs121908946(A;A)
Reference Rs121908946(G;G)
Significance Pathogenic
Disease Centromeric instability of chromosomes 1
Variation info
Gene DNMT3B
CLNDBN Centromeric instability of chromosomes 1,9 and 16 and immunodeficiency
Reversed 0
HGVS NC_000020.10:g.31395666G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000007136.3,